Trombocytopathie en trombocytopenie

Arthrogryposis-renal dysfunction-cholestasis syndrome

Autism with platelet dense granule defect

Aspirin-like syndrome

Chediak-Higashi syndrome

Cytosolic phospholipase A2 syndrome

Ephrin type-B receptor 2-related disease

Glanzmann thrombasthenia

Ghosal syndrome

Hermansky-Pudlak syndrome

Leukocyte adhesion deficiency-III

P2Y12-related disease

Scott syndrome

TxA2 receptor-related disease

ANKRD-26-related thrombocytopenia – Leukocytosis, polycythemia, leukemia predisposition

ARPC1B deficiency – Allergies, autoimmunity, eczema, vasculitis

Arthrogryposis-renal dysfunction-cholestasis syndrome – Arthrogryposis, renal dysfunction, cholestasis, growth failure, cardiac defects, ichthyosis, infections

Autism with platelet dense granule deficiency – Autism

Chediak-Higashi syndrome – Hypopigmentation, immunodeficiency, ataxia, neuropathy

ETV6-related thrombocytopenia and leukemia predisposition – Macrocytosis, leukemia predisposition

Familial platelet disorder with predisposition to myeloid malignancy – Myeloid malignancy

FLNA-related thrombocytopenia – Otopalatodigital syndrome, brain malformation (periventricular nodular heterotopia)

GALE-related thrombocytopenia – Neutropenia

GATA1 X-linked thrombocytopenia with dyserythropoietic hemolytic anemia with similarity to beta-thalassemia

Ghosal syndrome – Osteopetrosis

GPVI-related disease – Possible autoimmune manifestations

Hermansky-Pudlak syndrome – Hypopigmentation, pulmonary fibrosis, colitis, neutropenia, immunodeficiency

Jacobsen syndrome (larger deletion that also causes Paris-Trousseau syndrome) – Growth and developmental delay, intellectual disability, cardiac defects, skull dysmorphism

MYH9-related disease – Sensorineural hearing loss, kidney disease, cataracts

Noonan syndrome – Cardiac defects, facial dysmorphism, short stature, skeletal malformations

SLC35A1-related thrombocytopenia – Delayed psychomotor development, ataxia, choreiform movements, epilepsy, microcephaly

Stormorken syndrome – Immunodeficiency, muscular hypotonia, ectodermal dysplasia

Stormorken syndrome/York platelet syndrome – Immunodeficiency, asplenia, facial dysmorphism, ichthyosis, intellectual disability, myopathy

Thrombocytopenia absent radius (TAR) – Radial dysplasia, upper and lower limb abnormalities, cardiac, renal and central nervous system malformations

Thrombocytopenia, anemia and myelofibrosis syndrome – Hepatosplenomegaly, anemia, myelofibrosis

Wiskott-Aldrich syndrome and X-linked thrombocytopenia – Immunodeficiency, autoimmunity, eczema, malignancy

Wiskott-Aldrich syndrome 2 – Autoimmunity, eczema, malignancy